ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.650C>T (p.Thr217Ile)

gnomAD frequency: 0.00001  dbSNP: rs777062011
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001945507 SCV002193902 uncertain significance Chromosome 2q32-q33 deletion syndrome 2022-11-28 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 217 of the SATB2 protein (p.Thr217Ile). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SATB2 protein function. ClinVar contains an entry for this variant (Variation ID: 1415244). This variant has not been reported in the literature in individuals affected with SATB2-related conditions. This variant is present in population databases (rs777062011, gnomAD 0.007%).

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